Lincoln's Light: Help Cure SPG50

Trying to find the right words for the unimaginable seems impossible. But here we go...

We are Cody and Jordan, and our sweet (almost) 3-year-old son, Lincoln, has been diagnosed with having an ultra-rare neurodegenerative disease known as AP4M1 hereditary spastic paraplegia or spastic paraplegia type 50 (SPG50). There are around 100 known cases of SPG50 worldwide.

SPG50 is an autosomal recessive genetic disorder. This means that we both have a pathogenic (disease causing) variant of the AP4M1 gene in which Lincoln inherited. There is a 25% chance that any of our offspring will inherit this condition.

OUR STORY

Imagine this… you’re pregnant with your first child and you feel incredible as you’ve navigated a healthy pregnancy up until this point. You're at the 20 week milestone, and eagerly heading into the clinic to get an anatomy scan. You’ve waited for this moment - you get to find out the sex of your baby! What you’re not prepared for, is being told that your baby has a brain abnormality. That fall from cloud 9 can happen so quickly, and in a single moment your world is ripped apart. We are certain that many of you can relate to this scenario.

We had our anatomy scan first thing that morning. We left the clinic beaming with excitement - a boy! We hopped in the car and began our 9 hour drive out-of-state to visit family to reveal the big surprise. Nearing the end of our road trip, we received a call from our midwife. We were told that Lincoln had a brain abnormality known as ventriculomegaly. The left lateral ventricle in his brain, which helps to regulate cerebral spinal fluid, was enlarged. We were thrown into what felt like a medical rabbit hole from that point forward.

Ultimately, we were told that there could be an 8% chance that Lincoln would have severe cognitive impairment, amongst other issues. We felt reassured that all testing thus far had revealed only mild ventriculomegaly with no direct cause, and we were hopeful that Lincoln would be just fine.

Lincoln was born in January 2021. Initially, he seemed to be meeting his developmental milestones only slightly later than his peers. There didn’t appear to be any obvious red flags.

At 6 months of age, Lincoln was diagnosed with microcephaly, a small head size. He later had an MRI scan that revealed several abnormal structural findings of the brain, but all were non-specific. Still no real answer.

Lincoln continued to learn new skills and we felt confident that everything would “click” and fall into place for him. And then he would be unstoppable. As time passed, it became more apparent that he was falling farther behind. Genetic testing was the next step.

WHAT IS SPG50?

Lincoln was diagnosed with SPG50 in Oct. 2023. We received a brief phone call with a genetic counselor that evening. We heard the word “spasticity” and were told that ventriculomegaly, microcephaly, global developmental delay and severe speech impairment were all characterized by this condition. In that moment, we felt relieved that we finally had an answer…not realizing the complexity and progressive nature of the condition.

SPG50 is a neurodegenerative disease. Lincoln will experience worsening tightness and weakness in his legs, leading to severely impaired mobility and paralysis. He will likely become wheelchair dependent by the age of 10. He will then slowly lose his ability to use his hands and arms, leading to quadriplegia by the age of 20. It is also characterized by a decline in mental capacity, and even seizures in more than half of documented cases. Few individuals have been known to survive into their 30’s. The future that we had envisioned for Lincoln was taken away at that moment.

He has participated in PT, OT and ST for most of his life. As time passes, he will lose the skills that he has worked so hard to learn.

HOW IS LINCOLN DOING?

Lincoln's laugh is incredibly wholesome and is sure to brighten anyone's day. He is a ray of light and brings so much warmth into our lives.

Most children affected by SPG50 never gain the ability to walk independently. We feel incredibly fortunate that Lincoln started walking at a "young" age, considering the circumstances. He walks on his tip-toes and is uncoordinated, but he is very determined. He is mostly non-verbal.

Many of Lincoln's favorite activities are centered around walking and running. These include being chased (and tickled) and exploring outside. He proudly gets himself out of his bed early every morning, and the whole house can hear his tiny footsteps walking down the hallway. We occasionally even hear these tiny footsteps at 3 AM in which he ends up in bed with us. His huge smile and expressive clapping make the crowded space and lack of sleep entirely worth it.

TREATMENT

A dedicated father from Canada, Terry Pirovolakis, worked for 3+ years to raise funds and spearhead a mission to find a cure for SPG50. His incredible efforts have led to the development of a gene therapy treatment, called Melpida. A copy of the working-AP4M1 gene is injected into the spinal column. This may slow down or stop the progression of the disease. Terry’s son was the first child to receive a dose in 2022. In 2023, three additional children received a dose in the US. So far, the results are promising, and a pivotal trial may be opening as early as next year to deliver 8-10 more doses to affected children. Because of this, we are cautiously optimistic for Lincoln's future.

We want to keep this trajectory moving forward. We don't want Lincoln, or any other child with SPG50, to get left behind.

Research and drug development is an expensive, lengthy process. It is difficult to obtain funding and support from large pharmaceutical companies as ultra-rare diseases are seen as a market that is not financially beneficial. For perspective, one dose of Melipida costs $1 million to make and an additional $300,000 to treat a child.

Research on rare disease is reliant on fundraising and generous donations.

DONATIONS

We intend to start a non-profit organization, Lincoln's Light, to shine awareness on SPG50 and AP-4 deficiency syndrome as a whole. Our mission is to raise money to ensure that every child with SPG50 has access to treatment, and to fund further research.

Our goal is huge, but it isn’t impossible. All donations make an impact. If you are unable to donate at this time, there are other ways that you can help:

We want to extend a sincere thank you to anybody willing to read, share and donate!

For more information, check out the following organizations:

https://www.curespg50.org/

https://www.jackscorner.org/

https://cureap4.org/

For more information on the gene therapy (Melpida) clinical trial, visit:

https://clinicaltrials.gov/study/NCT05518188

https://www.elpidatx.com/